ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.-16616T>C (rs532941548)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000155746 SCV000169951 benign not specified 2012-03-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155746 SCV000205456 likely benign not specified 2018-02-28 criteria provided, single submitter clinical testing c.-5T>C in the 5'UTR of KCNQ1: This variant is classified as likely benign becau se it has been identified in 0.34% (47/13662) of European chromosomes by the Gen ome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/; dbSNP rs532 941548). ACMG/AMP Criteria applied: BS1.
Ambry Genetics RCV000242002 SCV000319135 likely benign Cardiovascular phenotype 2017-05-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Subpopulation frequency in support of benign classification,Other data supporting benign classification
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725213 SCV000335034 uncertain significance not provided 2015-09-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389967 SCV000370195 likely benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310463 SCV000370196 likely benign Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364999 SCV000370197 likely benign Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270523 SCV000370198 likely benign short QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307327 SCV000370199 likely benign Jervell and Lange-Nielsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000725213 SCV001144353 uncertain significance not provided 2018-11-19 criteria provided, single submitter clinical testing

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